ClinVar Miner

Submissions for variant NM_000051.3(ATM):c.8786+8A>C (rs4986839)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000119125 SCV000153839 benign Ataxia-telangiectasia syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000128889 SCV000172748 benign Hereditary cancer-predisposing syndrome 2012-07-19 criteria provided, single submitter clinical testing
Vantari Genetics RCV000128889 SCV000266994 benign Hereditary cancer-predisposing syndrome 2015-12-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000250207 SCV000301685 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000119125 SCV000367071 benign Ataxia-telangiectasia syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Color RCV000128889 SCV000537352 benign Hereditary cancer-predisposing syndrome 2015-03-31 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000128889 SCV000679687 likely benign Hereditary cancer-predisposing syndrome 2017-07-12 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000119125 SCV000743735 likely benign Ataxia-telangiectasia syndrome 2014-10-09 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710683 SCV000840967 benign not provided 2017-08-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000119125 SCV000745821 benign Ataxia-telangiectasia syndrome 2015-10-05 no assertion criteria provided clinical testing
True Health Diagnostics RCV000128889 SCV000787884 likely benign Hereditary cancer-predisposing syndrome 2018-02-05 no assertion criteria provided clinical testing

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